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1.
J Pers Med ; 11(8)2021 Jul 30.
Artículo en Inglés | MEDLINE | ID: mdl-34442399

RESUMEN

The return of genetic results (RoR) to participants, enrolled as children, in autism research remains a complex process. Existing recommendations offer limited guidance on the use of genetic research results for clinical care. We highlight current challenges with RoR and illustrate how the use of a guiding framework drawn from existing literature facilitates RoR and the clinical integration of genetic research results. We report a case series (n = 16) involving the return of genetic results to participants in large genomics studies in Autism Spectrum Disorders (ASD). We outline the framework that guided RoR and facilitated integration into clinical care pathways. We highlight specific cases to illustrate challenges that were, or could have been, resolved through this framework. The case series demonstrates the ethical, clinical and practical difficulties of RoR in ASD genomic studies for participants enrolled as children. Challenges were resolved using pre-established framework to guide RoR and incorporate research genetic results into clinical care. We suggest that optimal use of genetic research results relies on their integration into individualized care pathways for participants. We offer a framework that attempts to bridge the gap between research and healthcare in ASD.

2.
Transcult Psychiatry ; 41(1): 130-42, 2004 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-15171211

RESUMEN

Illness narratives reflect patients' underlying illness schemas or models of illness as well as efforts to position themselves vis-à-vis a specific interlocutor and social context. Although the literature on illness narratives in medical anthropology has been dominated by the explanatory model perspective, people may use other types of knowledge structures to frame and construct their conceptions of symptoms. For this study, we developed operational definitions and a coding manual for three types of putative knowledge schemas: prototypes, chain complexes, and explanatory accounts. The operationalized definitions were then applied to coding a sample of illness narratives collected in a study of help-seeking in an urban community population. It was found that all three knowledge structures could be reliably identified in these narratives. This method of analysis provides a way to test hypotheses regarding the role of knowledge structures in illness narratives.


Asunto(s)
Antropología Cultural , Conocimiento , Trastornos Mentales/diagnóstico , Trastornos Mentales/psicología , Modelos Psicológicos , Adolescente , Recolección de Datos , Femenino , Humanos , Masculino , Trastornos Mentales/etnología , Persona de Mediana Edad , Filipinas/etnología , Reproducibilidad de los Resultados , Terminología como Asunto
3.
Ann Allergy Asthma Immunol ; 95(6): 558-65, 2005 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-16400896

RESUMEN

BACKGROUND: There have been reports that some children with autistic spectrum disorders have abnormal immune function. However, data in this area remain scarce and conflicting. OBJECTIVE: To evaluate the immune function of a series of autistic children in the context of this proposed association. METHODS: We prospectively collected data on 24 autistic children who, between January 1, 1996, and September 30, 1998, were referred unsolicited to an immunology clinic. We examined the clinical history and evaluated immunoglobulin levels; specific antibody titers to diphtheria, tetanus, and Haemophilus influenzae; T- + B-cell numbers; T-cell proliferation; and complement studies. RESULTS: Seven of the 24 children had a history of recurrent infections. Only 2 patients had immunoglobulin levels that were outside the age-adjusted reference ranges, 1 of whom was subsequently diagnosed as having common variable immune deficiency. All the patients had normal in vitro T-cell function and complement study results, and only 2 of 24 patients had subtle derangements in T-cell numbers. Elevated levels of IgE were found in 5 patients, which correlated with a clinical history of atopy. Low diphtheria or tetanus antibody levels were found in 12 patients, but in 11 of these, vaccination status was not up-to-date. CONCLUSIONS: Most of the autistic children studied had normal immune function, suggesting that routine immunologic investigation is unlikely to be of benefit in most autistic children and should be considered only when there is a history suggestive of recurrent infections.


Asunto(s)
Anticuerpos Antibacterianos/sangre , Trastorno Autístico/inmunología , Linfocitos B/inmunología , Linfocitos T/inmunología , Adolescente , Niño , Preescolar , Difteria/inmunología , Femenino , Citometría de Flujo , Haemophilus influenzae/inmunología , Humanos , Inmunoglobulinas/sangre , Activación de Linfocitos , Recuento de Linfocitos , Masculino , Tétanos/inmunología
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